AI Article Synopsis
- Mismatch repair (MMR) immunohistochemical evaluation is now a routine method for identifying colorectal cancer (CRC) patients with MMR deficiency, which is important for personalized treatment.
- In a study analyzing 8282 CRCs for MMR proteins, 12.8% were found to have altered MMR status, with a small fraction (0.56%) exhibiting intratumor heterogeneity.
- The authors emphasize the need for careful consideration of MMR heterogeneity in clinical settings, as it can affect the accuracy of diagnoses and patient care.
Article Abstract
Mismatch repair (MMR) immunohistochemical (IHC) evaluation has entered pathology routine practice as the first-line screening method to identify patients with MMR deficient (MMRd)/microsatellite instability (MSI) colorectal cancer (CRC), and its misdiagnosis may significantly impact the personalization of CRC patient care. To determine the prevalence of MMR protein intratumor heterogeneity in real-world practice, we collected a series of 8282 CRCs tested for MMR proteins in the setting of Lynch syndrome universal screening. Four heterogenous cases were also investigated for tumor infiltrating lymphocytes count, MSI status, and consensus molecular subtypes by Nanostring nCounter® Platform. Overall, 1056 (12.8%) CRCs showed a MMR altered status, with 46 cases showing a heterogeneous MMR profile (0.56% of the total, and 4.36% of all MMRd cases). To conclude, the authors make some critical remarks regarding the approach to MMR heterogeneity in clinical practice and routine diagnostics.
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| http://dx.doi.org/10.1007/s00428-023-03726-z | DOI Listing |
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